Evidence map›Paper›PMID 37652706›Full record

ArticleNeurology2023

Pearls & Oy-sters: Epilepsy Is a Key Feature of Pediatric-Onset Huntington Disease.

Dawn B Lammert, Jee Bang, Carl E Stafstrom

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Efficacy of aripiprazole in pediatric-onset Huntington's disease: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  3. Review
  4. Review
  5. Clinical Review of Juvenile Huntington's Disease.Journal of Huntington's disease · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Dawn B LammertFrom the Department of Neurology (D.B.L., C.E.S.), Division of Pediatric Neurology, Johns Hopkins University School of Medicine; and Department of Neurology (J.B.), Johns Hopkins University School of Medicine, Baltimore, MD. dlammer2@jhmi.edu.ORCID https://orcid.org/0000-0002-8906-6123
Jee BangFrom the Department of Neurology (D.B.L., C.E.S.), Division of Pediatric Neurology, Johns Hopkins University School of Medicine; and Department of Neurology (J.B.), Johns Hopkins University School of Medicine, Baltimore, MD.
Carl E StafstromFrom the Department of Neurology (D.B.L., C.E.S.), Division of Pediatric Neurology, Johns Hopkins University School of Medicine; and Department of Neurology (J.B.), Johns Hopkins University School of Medicine, Baltimore, MD.
Johns Hopkins University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pediatric-onset Huntington disease (PoHD) presents differently from adult-onset disease. Children typically exhibit regression in school performance, psychiatric features such as inattention, and oral motor dysfunction. Unlike adult-onset HD, in which seizures occur at approximately the rate of the general public, at least half of children with HD develop epilepsy, and seizures can be a presenting feature of PoHD. Here we present the case of a 10-year-old boy with a history of language delay, motor regression, oral motor dysfunction, and tremor who presented with a first lifetime seizure. Given a family history of Huntington disease in his father, PoHD was considered, and a pathogenic allele with 88 repeats was confirmed in the child. As symptoms progressed, history alone could not differentiate abnormal movements from seizures. Continuous video electroencephalography helped to demonstrate epileptic myoclonic jerks and guide treatment.

Indexed as

EpilepsyHuntington DiseaseMyoclonusAdultChildElectroencephalographyHumansMaleSeizures

Identifiers

PMID37652706
PMCPMC10662976
OpenAlexW4386317993

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.